Associated Papers
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Clinical and molecular characterization of patients with adenylosuccinate lyase deficiency.
Mastrogiorgio G et al.
Orphanet Journal of Rare Diseases, 2021
A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing.
Macchiaiolo M et al.
Italian Journal of Pediatrics, 2017
The genetic landscape of infantile spasms.
Michaud JL et al.
Human Molecular Genetics, 2014
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